Major medical findings aided by family history records

George Frey, a British

immigrant in the 1600s, brought his family, his belongings and, unbeknownst to

him, a colon cancer genetic mutation to America.

Researchers at the University of Utah

discovered a strong familial disposition to colon cancers in Frey’s descendants.

 Through the use of family history records of The Church of Jesus Christ of

Latter-day Saints to define relationships among two separate links of Frey’s

family, one in Utah and one in New York, a “founder mutation — one traced from

many people in the present-day population back to a common ancestor” — was

uncovered.

“The fact that this mutation can be

traced so far back in time suggests that it could be carried by additional

families in the United States,” explains Deborah Neklason, a genetics research

professor at the Salt Lake City university.

Neklason is among researchers at the

university who have successfully linked genetic disposition to cancer through

the use of family history records. Her work with a mutation called attenuated

familial adenomatous polyposis (AFAP) indicates that individuals with this

mutation have a 2 in 3 risk of colon cancer by age 80, compared to 1 in 24 for

the general population.

According to Dr. Lorris Betz, senior

vice president of health science and CEO of the University of Utah health

system, other scientists at the university have also discovered the first

genetic breast cancer mutation, a gene mutation for melanoma, a susceptibility

gene for prostate cancer and a dozen or more relatively rare diseases,

most with multiple genetic defects.

“Our researchers and clinicians excel in

their areas of expertise,” notes David Jones, senior director of early

translational research at the university’s Huntsman Cancer Institute.

“Translational research spans the entire process of making fundamental basic

science discovery in the laboratory, analyzing its implications and developing

practical applications clinicians can use to benefit patients.”

Such dedicated and innovative research

funds the hope of the Huntsman Cancer Institute that cancer and other diseases may

be managed more effectively or even eradicated.

See the original story posting at LDS.org/newsroom.